Shared biological pathways and processes in patients with intellectual disability: A multicenter study

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dc.authorid0000-0001-6930-7148
dc.authorid0000-0003-1513-6149
dc.contributor.authorGünay, Ça?atay
dc.contributor.authorAykol, Duygu
dc.contributor.authorÖzsoy, Özlem
dc.contributor.authorSönmezler, Ece
dc.contributor.authorHancı, Yaren Sena
dc.contributor.authorKara, Bülent
dc.contributor.authorAkkoyunlu Sünnetçi, Deniz
dc.contributor.authorÇine, Naci
dc.contributor.authorDeniz, Adnan
dc.contributor.authorÖztürk, Gülten
dc.date.accessioned2024-02-22T11:29:46Z
dc.date.available2024-02-22T11:29:46Z
dc.date.issued2023
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractBackground ?Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Methods ?In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results ?Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. Conclusion ?Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.
dc.identifier.citationGünay, Ç., Aykol, D., Özsoy, Ö., Sönmezler, E., Hancı, Y. S., Kara, B. ... Öztürk, G. (2023). Shared biological pathways and processes in patients with intellectual disability: A multicenter study. Neuropediatrics, 54(4), 225-238. https://dx.doi.org/10.1055/a-2034-8528
dc.identifier.doi10.1055/a-2034-8528
dc.identifier.endpage238
dc.identifier.issn0174-304X
dc.identifier.issn1439-1899
dc.identifier.issue4
dc.identifier.pmid36787800
dc.identifier.scopus2-s2.0-85159693274
dc.identifier.scopusqualityQ3
dc.identifier.startpage225
dc.identifier.urihttps://dx.doi.org/10.1055/a-2034-8528
dc.identifier.urihttps://hdl.handle.net/20.500.12511/12304
dc.identifier.volume54
dc.identifier.wos000957331200002en_US
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAyaz, Akif
dc.institutionauthorTopçu, Yasemin
dc.institutionauthorKılıç, Betül
dc.institutionauthorAydın, Kürşad
dc.language.isoen
dc.publisherGeorg Thieme Verlag
dc.relation.ispartofNeuropediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectNeurodevelopmental Disorder
dc.subjectIntellectual Disability
dc.subjectPathway Analysis
dc.subjectEnrichment Analysis
dc.subjectKEGG
dc.subjectOntology
dc.titleShared biological pathways and processes in patients with intellectual disability: A multicenter study
dc.typeArticle

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